dc.contributor.author | Hanks, S | |
dc.contributor.author | Perdeaux, ER | |
dc.contributor.author | Seal, S | |
dc.contributor.author | Ruark, E | |
dc.contributor.author | Mahamdallie, SS | |
dc.contributor.author | Murray, A | |
dc.contributor.author | Ramsay, E | |
dc.contributor.author | Del Vecchio Duarte, S | |
dc.contributor.author | Zachariou, A | |
dc.contributor.author | de Souza, B | |
dc.contributor.author | Warren-Perry, M | |
dc.contributor.author | Elliott, A | |
dc.contributor.author | Davidson, A | |
dc.contributor.author | Price, H | |
dc.contributor.author | Stiller, C | |
dc.contributor.author | Pritchard-Jones, K | |
dc.contributor.author | Rahman, N | |
dc.date.accessioned | 2020-08-13T11:48:08Z | |
dc.date.issued | 2014-08-07 | |
dc.identifier.citation | Nature communications, 2014, 5 pp. 4398 - ? | |
dc.identifier.issn | 2041-1723 | |
dc.identifier.uri | https://repository.icr.ac.uk/handle/internal/3956 | |
dc.identifier.eissn | 2041-1723 | |
dc.identifier.doi | 10.1038/ncomms5398 | |
dc.description.abstract | Wilms tumour is a childhood kidney cancer. Here we identify inactivating CTR9 mutations in 3 of 35 Wilms tumour families, through exome and Sanger sequencing. By contrast, no similar mutations are present in 1,000 population controls (P<0.0001). Each mutation segregates with Wilms tumour in the family and a second mutational event is present in available tumours. CTR9 is a key component of the polymerase-associated factor 1 complex which has multiple roles in RNA polymerase II regulation and is implicated in embryonic organogenesis and maintenance of embryonic stem cell pluripotency. These data establish CTR9 as a Wilms tumour predisposition gene and suggest it acts as a tumour suppressor gene. | |
dc.format | Electronic | |
dc.format.extent | 4398 - ? | |
dc.language | eng | |
dc.language.iso | eng | |
dc.publisher | NATURE PUBLISHING GROUP | |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0 | |
dc.subject | Kidney | |
dc.subject | Lymphocytes | |
dc.subject | Humans | |
dc.subject | Genetic Predisposition to Disease | |
dc.subject | Nuclear Proteins | |
dc.subject | Phosphoproteins | |
dc.subject | Transcription Factors | |
dc.subject | Pedigree | |
dc.subject | DNA Mutational Analysis | |
dc.subject | Alternative Splicing | |
dc.subject | Heterozygote | |
dc.subject | Germ-Line Mutation | |
dc.subject | Exons | |
dc.subject | Child, Preschool | |
dc.subject | Infant | |
dc.subject | Family Health | |
dc.subject | Female | |
dc.subject | Male | |
dc.subject | Wilms Tumor | |
dc.subject | Exome | |
dc.title | Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour. | |
dc.type | Journal Article | |
dcterms.dateAccepted | 2014-06-13 | |
rioxxterms.versionofrecord | 10.1038/ncomms5398 | |
rioxxterms.licenseref.uri | https://creativecommons.org/licenses/by-nc-nd/4.0 | |
rioxxterms.licenseref.startdate | 2014-08-07 | |
rioxxterms.type | Journal Article/Review | |
dc.relation.isPartOf | Nature communications | |
pubs.notes | Not known | |
pubs.organisational-group | /ICR | |
pubs.organisational-group | /ICR/Primary Group | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Breast Cancer Research | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Breast Cancer Research/Genetic Susceptibility | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Cancer Therapeutics | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Cancer Therapeutics/Medicine Drug Development Unit (de Bono) | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Clinical Studies | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Clinical Studies/Medicine Drug Development Unit (de Bono) | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Genetics and Epidemiology | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Genetic Susceptibility | |
pubs.organisational-group | /ICR | |
pubs.organisational-group | /ICR/Primary Group | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Breast Cancer Research | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Breast Cancer Research/Genetic Susceptibility | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Cancer Therapeutics | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Cancer Therapeutics/Medicine Drug Development Unit (de Bono) | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Clinical Studies | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Clinical Studies/Medicine Drug Development Unit (de Bono) | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Genetics and Epidemiology | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Genetic Susceptibility | |
pubs.publication-status | Published | |
pubs.volume | 5 | |
pubs.embargo.terms | Not known | |
icr.researchteam | Medicine Drug Development Unit (de Bono) | |
icr.researchteam | Genetic Susceptibility | |
dc.contributor.icrauthor | Zachariou, Anna | |
dc.contributor.icrauthor | Elliott, Anna | |